← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-46518141-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46518141&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46518141,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000642948.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5387A>G",
"hgvs_p": "p.Lys1796Arg",
"transcript": "NM_001384474.1",
"protein_id": "NP_001371403.1",
"transcript_support_level": null,
"aa_start": 1796,
"aa_end": null,
"aa_length": 2273,
"cds_start": 5387,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 5574,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "ENST00000642948.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5387A>G",
"hgvs_p": "p.Lys1796Arg",
"transcript": "ENST00000642948.1",
"protein_id": "ENSP00000496347.1",
"transcript_support_level": null,
"aa_start": 1796,
"aa_end": null,
"aa_length": 2273,
"cds_start": 5387,
"cds_end": null,
"cds_length": 6822,
"cdna_start": 5574,
"cdna_end": null,
"cdna_length": 7208,
"mane_select": "NM_001384474.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2054A>G",
"hgvs_p": "p.Lys685Arg",
"transcript": "ENST00000300591.11",
"protein_id": "ENSP00000300591.6",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2054,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Lys589Arg",
"transcript": "ENST00000579038.6",
"protein_id": "ENSP00000463285.1",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 1011,
"cds_start": 1766,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000398686.8",
"protein_id": "ENSP00000381676.4",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 512,
"cds_start": 104,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5201A>G",
"hgvs_p": "p.Lys1734Arg",
"transcript": "NM_144612.7",
"protein_id": "NP_653213.6",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 2211,
"cds_start": 5201,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 5388,
"cdna_end": null,
"cdna_length": 7022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.5201A>G",
"hgvs_p": "p.Lys1734Arg",
"transcript": "ENST00000536736.5",
"protein_id": "ENSP00000444586.1",
"transcript_support_level": 5,
"aa_start": 1734,
"aa_end": null,
"aa_length": 2211,
"cds_start": 5201,
"cds_end": null,
"cds_length": 6636,
"cdna_start": 5201,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4769A>G",
"hgvs_p": "p.Lys1590Arg",
"transcript": "ENST00000441551.6",
"protein_id": "ENSP00000387621.2",
"transcript_support_level": 5,
"aa_start": 1590,
"aa_end": null,
"aa_length": 2067,
"cds_start": 4769,
"cds_end": null,
"cds_length": 6204,
"cdna_start": 4769,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2054A>G",
"hgvs_p": "p.Lys685Arg",
"transcript": "NM_001145472.3",
"protein_id": "NP_001138944.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2054,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Lys623Arg",
"transcript": "ENST00000582408.6",
"protein_id": "ENSP00000461964.1",
"transcript_support_level": 2,
"aa_start": 623,
"aa_end": null,
"aa_length": 1100,
"cds_start": 1868,
"cds_end": null,
"cds_length": 3303,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Lys589Arg",
"transcript": "NM_001308013.2",
"protein_id": "NP_001294942.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1011,
"cds_start": 1766,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "NM_001145473.3",
"protein_id": "NP_001138945.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 512,
"cds_start": 104,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "NM_001173129.2",
"protein_id": "NP_001166600.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 457,
"cds_start": 104,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000398705.7",
"protein_id": "ENSP00000381692.2",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 457,
"cds_start": 104,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000414184.1",
"protein_id": "ENSP00000392440.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 179,
"cds_start": 104,
"cds_end": null,
"cds_length": 541,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "ENST00000452425.2",
"protein_id": "ENSP00000414278.2",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 39,
"cds_start": 104,
"cds_end": null,
"cds_length": 120,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4343A>G",
"hgvs_p": "p.Lys1448Arg",
"transcript": "XM_047437289.1",
"protein_id": "XP_047293245.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1925,
"cds_start": 4343,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 4442,
"cdna_end": null,
"cdna_length": 6076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4553A>G",
"hgvs_p": "p.Lys1518Arg",
"transcript": "XM_047437290.1",
"protein_id": "XP_047293246.1",
"transcript_support_level": null,
"aa_start": 1518,
"aa_end": null,
"aa_length": 1768,
"cds_start": 4553,
"cds_end": null,
"cds_length": 5307,
"cdna_start": 4700,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4553A>G",
"hgvs_p": "p.Lys1518Arg",
"transcript": "XM_047437291.1",
"protein_id": "XP_047293247.1",
"transcript_support_level": null,
"aa_start": 1518,
"aa_end": null,
"aa_length": 1765,
"cds_start": 4553,
"cds_end": null,
"cds_length": 5298,
"cdna_start": 4700,
"cdna_end": null,
"cdna_length": 7090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4553A>G",
"hgvs_p": "p.Lys1518Arg",
"transcript": "XM_047437292.1",
"protein_id": "XP_047293248.1",
"transcript_support_level": null,
"aa_start": 1518,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4553,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 4700,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.3548A>G",
"hgvs_p": "p.Lys1183Arg",
"transcript": "XM_011525804.3",
"protein_id": "XP_011524106.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1660,
"cds_start": 3548,
"cds_end": null,
"cds_length": 4983,
"cdna_start": 3617,
"cdna_end": null,
"cdna_length": 5251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.4553A>G",
"hgvs_p": "p.Lys1518Arg",
"transcript": "XM_047437293.1",
"protein_id": "XP_047293249.1",
"transcript_support_level": null,
"aa_start": 1518,
"aa_end": null,
"aa_length": 1635,
"cds_start": 4553,
"cds_end": null,
"cds_length": 4908,
"cdna_start": 4700,
"cdna_end": null,
"cdna_length": 5153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2186A>G",
"hgvs_p": "p.Lys729Arg",
"transcript": "XM_006722388.4",
"protein_id": "XP_006722451.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2186,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2314,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2051A>G",
"hgvs_p": "p.Lys684Arg",
"transcript": "XM_024451085.2",
"protein_id": "XP_024306853.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2051,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Lys667Arg",
"transcript": "XM_006722391.4",
"protein_id": "XP_006722454.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 1144,
"cds_start": 2000,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Lys589Arg",
"transcript": "XM_024451086.2",
"protein_id": "XP_024306854.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1766,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.Lys589Arg",
"transcript": "XM_024451088.2",
"protein_id": "XP_024306856.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1766,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.155A>G",
"hgvs_p": "p.Lys52Arg",
"transcript": "XM_011525810.3",
"protein_id": "XP_011524112.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 529,
"cds_start": 155,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.Lys35Arg",
"transcript": "XM_011525811.3",
"protein_id": "XP_011524113.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 512,
"cds_start": 104,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"hgvs_c": "n.4514A>G",
"hgvs_p": null,
"transcript": "ENST00000335730.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LOXHD1",
"gene_hgnc_id": 26521,
"dbsnp": "rs370816148",
"frequency_reference_population": 0.00024749796,
"hom_count_reference_population": 1,
"allele_count_reference_population": 384,
"gnomad_exomes_af": 0.000262974,
"gnomad_genomes_af": 0.000105159,
"gnomad_exomes_ac": 368,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24118229746818542,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.297,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1926,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.635,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000642948.1",
"gene_symbol": "LOXHD1",
"hgnc_id": 26521,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5387A>G",
"hgvs_p": "p.Lys1796Arg"
}
],
"clinvar_disease": " autosomal recessive,Autosomal recessive nonsyndromic hearing loss 77,Hearing loss,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not specified|Autosomal recessive nonsyndromic hearing loss 77|not provided|Inborn genetic diseases|Hearing loss, autosomal recessive",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}